ClinVar Miner

List of variants reported as pathogenic for von Willebrand disease 2 by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.